Elsa Wiame
Overview
Explore the profile of Elsa Wiame including associated specialties, affiliations and a list of published articles.
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24
Citations
396
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Recent Articles
1.
Benkirane A, Warlop T, Ivanoiu A, Baret P, Wiame E, Haufroid V, et al.
Front Neurol
. 2023 Jan;
13:1063803.
PMID: 36686537
Copper deficiency is an acquired condition that can lead to neurologic dysfunctions, such as myelopathy, motor neuron impairment, polyneuropathy, cognitive impairment, and optic nerve neuropathy. Associated biological findings are low...
2.
Maia N, Potelle S, Yildirim H, Duvet S, Akula S, Schulz C, et al.
Am J Hum Genet
. 2022 Jan;
109(2):345-360.
PMID: 35045343
Free oligosaccharides (fOSs) are soluble oligosaccharide species generated during N-glycosylation of proteins. Although little is known about fOS metabolism, the recent identification of NGLY1 deficiency, a congenital disorder of deglycosylation...
3.
Muffels I, Wiame E, Fuchs S, Massink M, Rehmann H, Musch J, et al.
Brain Commun
. 2021 Nov;
3(4):fcab256.
PMID: 34805998
The recent identification of NAA80/NAT6 as the enzyme that acetylates actins generated new insight into the process of post-translational actin modifications; however, the role of NAA80 in human physiology and...
4.
Lausberg E, Giesselmann S, Dewulf J, Wiame E, Holz A, Salvarinova R, et al.
J Clin Invest
. 2021 May;
131(12).
PMID: 33945503
BACKGROUNDDeciphering the function of the many genes previously classified as uncharacterized open reading frame (ORF) would complete our understanding of a cell's function and its pathophysiology.METHODSWhole-exome sequencing, yeast 2-hybrid and...
5.
Heterogeneous colonic content: A prenatal sonographic manifestation of lysinuric protein intolerance
Dimitriou C, Saliba S, Peyrassol X, Ben Abbou W, Nassogne M, Neugroschl C, et al.
Clin Case Rep
. 2020 Jun;
8(6):1010-1014.
PMID: 32577254
We report a fetus with heterogeneous colonic content, an isolated sonographic prenatal sign of lysinuric protein intolerance, a very rare metabolic disease. Familial genetic enquiries confirmed heterozygote mutation in the...
6.
Dewulf J, Wiame E, Dorboz I, Elmaleh-Berges M, Imbard A, Dumitriu D, et al.
Ann Neurol
. 2019 Jan;
85(3):385-395.
PMID: 30635937
Objective: SLC13A3 encodes the plasma membrane Na /dicarboxylate cotransporter 3, which imports inside the cell 4 to 6 carbon dicarboxylates as well as N-acetylaspartate (NAA). SLC13A3 is mainly expressed in...
7.
Wiame E, Tahay G, Tyteca D, Vertommen D, Stroobant V, Bommer G, et al.
FEBS J
. 2018 Jul;
285(17):3299-3316.
PMID: 30028079
All forms of mammalian actin comprise at their N-terminus a negatively charged region consisting of an N-acetylated aspartate or glutamate followed by two or three acidic residues. This structural feature...
8.
Paquay S, Wiame E, Deggouj N, Boschi A, De Siati R, Sznajer Y, et al.
Int J Pediatr Otorhinolaryngol
. 2017 Dec;
104:191-194.
PMID: 29287866
CAPOS syndrome (cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss) is a rare neurological disorder, recently associated with the c.2452G > A hotspot mutation in the ATP1A3...
9.
Gold W, Sobreira N, Wiame E, Marbaix A, Van Schaftingen E, Franzka P, et al.
Am J Med Genet A
. 2017 Jun;
173(8):2246-2250.
PMID: 28574218
GMPPA encodes the GDP-mannose pyrophosphorylase A protein (GMPPA). The function of GMPPA is not well defined, however it is a homolog of GMPPB which catalyzes the reaction that converts mannose-1-phosphate...
10.
Ghilain V, Wiame E, Fomekong E, Vincent M, Dumitriu D, Nassogne M
Eur J Paediatr Neurol
. 2016 Jun;
20(5):777-81.
PMID: 27321952
Introduction: Lysinuric protein intolerance (LPI) is a form of inherited aminoaciduria caused by a deficiency in the cationic amino acid transport process on the basolateral membrane of enterocytes and renal...